Canonical Allele Identifier: CA413740693

Gene: TBX22

Linked Data

• gnomAD v4: X-80026741-T-A
• MyVariant Identifiers: chrX:g.79282240T>A (hg19) ; chrX:g.80026741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026741T>A , CM000685.2:g.80026741T>A	GRCh38
NC_000023.10:g.79282240T>A , CM000685.1:g.79282240T>A	GRCh37
NC_000023.9:g.79168896T>A	NCBI36
NG_008998.1:g.16986T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.671T>A MANE Select	ENSP00000362393.3:p.Val224Glu
ENST00000373294.8:c.671T>A	ENSP00000362390.5:p.Val224Glu
ENST00000373296.7:c.671T>A	ENSP00000362393.3:p.Val224Glu
ENST00000626498.2:c.*283T>A	ENSP00000487527.1:n.*283T>A
ENST00000626877.1:n.550T>A
NM_001109878.1:c.671T>A	NP_001103348.1:p.Val224Glu
NM_001109879.1:c.311T>A	NP_001103349.1:p.Val104Glu
NM_001303475.1:c.311T>A	NP_001290404.1:p.Val104Glu
NM_016954.2:c.671T>A	NP_058650.1:p.Val224Glu
XM_005262136.2:c.674T>A	XP_005262193.1:p.Val225Glu
XM_006724657.2:c.674T>A	XP_006724720.1:p.Val225Glu
XM_011530972.1:c.311T>A	XP_011529274.1:p.Val104Glu
NM_001109878.2:c.671T>A MANE Select	NP_001103348.1:p.Val224Glu
NM_001109879.2:c.311T>A	NP_001103349.1:p.Val104Glu